← Back to variant description
GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 1-215086371-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=215086371&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 215086371,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001017425.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNK2",
"gene_hgnc_id": 6277,
"hgvs_c": "c.50C>T",
"hgvs_p": "p.Ala17Val",
"transcript": "NM_001017425.3",
"protein_id": "NP_001017425.2",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 426,
"cds_start": 50,
"cds_end": null,
"cds_length": 1281,
"cdna_start": 699,
"cdna_end": null,
"cdna_length": 3875,
"mane_select": "ENST00000444842.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNK2",
"gene_hgnc_id": 6277,
"hgvs_c": "c.50C>T",
"hgvs_p": "p.Ala17Val",
"transcript": "ENST00000444842.7",
"protein_id": "ENSP00000394033.2",
"transcript_support_level": 1,
"aa_start": 17,
"aa_end": null,
"aa_length": 426,
"cds_start": 50,
"cds_end": null,
"cds_length": 1281,
"cdna_start": 699,
"cdna_end": null,
"cdna_length": 3875,
"mane_select": "NM_001017425.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNK2",
"gene_hgnc_id": 6277,
"hgvs_c": "c.38C>T",
"hgvs_p": "p.Ala13Val",
"transcript": "ENST00000391895.6",
"protein_id": "ENSP00000375765.2",
"transcript_support_level": 1,
"aa_start": 13,
"aa_end": null,
"aa_length": 422,
"cds_start": 38,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 105,
"cdna_end": null,
"cdna_length": 1410,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNK2",
"gene_hgnc_id": 6277,
"hgvs_c": "c.5C>T",
"hgvs_p": "p.Ala2Val",
"transcript": "ENST00000391894.6",
"protein_id": "ENSP00000375764.2",
"transcript_support_level": 1,
"aa_start": 2,
"aa_end": null,
"aa_length": 411,
"cds_start": 5,
"cds_end": null,
"cds_length": 1236,
"cdna_start": 188,
"cdna_end": null,
"cdna_length": 1491,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNK2",
"gene_hgnc_id": 6277,
"hgvs_c": "n.38C>T",
"hgvs_p": null,
"transcript": "ENST00000467031.5",
"protein_id": "ENSP00000420203.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1200,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNK2",
"gene_hgnc_id": 6277,
"hgvs_c": "c.38C>T",
"hgvs_p": "p.Ala13Val",
"transcript": "NM_001017424.3",
"protein_id": "NP_001017424.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 422,
"cds_start": 38,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 418,
"cdna_end": null,
"cdna_length": 3594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNK2",
"gene_hgnc_id": 6277,
"hgvs_c": "c.5C>T",
"hgvs_p": "p.Ala2Val",
"transcript": "NM_014217.4",
"protein_id": "NP_055032.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 411,
"cds_start": 5,
"cds_end": null,
"cds_length": 1236,
"cdna_start": 575,
"cdna_end": null,
"cdna_length": 3751,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNK2",
"gene_hgnc_id": 6277,
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Ala3Val",
"transcript": "XM_017001249.2",
"protein_id": "XP_016856738.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 412,
"cds_start": 8,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 506,
"cdna_end": null,
"cdna_length": 3682,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNK2",
"gene_hgnc_id": 6277,
"hgvs_c": "n.50C>T",
"hgvs_p": null,
"transcript": "ENST00000470177.5",
"protein_id": "ENSP00000419633.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNK2",
"gene_hgnc_id": 6277,
"hgvs_c": "n.5C>T",
"hgvs_p": null,
"transcript": "ENST00000474771.5",
"protein_id": "ENSP00000420499.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1130,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNK2",
"gene_hgnc_id": 6277,
"hgvs_c": "n.38C>T",
"hgvs_p": null,
"transcript": "ENST00000486921.5",
"protein_id": "ENSP00000418706.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNK2",
"gene_hgnc_id": 6277,
"hgvs_c": "c.-119C>T",
"hgvs_p": null,
"transcript": "ENST00000457122.1",
"protein_id": "ENSP00000413460.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 123,
"cds_start": -4,
"cds_end": null,
"cds_length": 374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 644,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNK2",
"gene_hgnc_id": 6277,
"hgvs_c": "c.-119C>T",
"hgvs_p": null,
"transcript": "ENST00000478774.5",
"protein_id": "ENSP00000420569.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 117,
"cds_start": -4,
"cds_end": null,
"cds_length": 354,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNK2",
"gene_hgnc_id": 6277,
"hgvs_c": "c.-119C>T",
"hgvs_p": null,
"transcript": "XM_011509522.3",
"protein_id": "XP_011507824.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 370,
"cds_start": -4,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3241,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNK2",
"gene_hgnc_id": 6277,
"hgvs_c": "c.-119C>T",
"hgvs_p": null,
"transcript": "XM_011509524.3",
"protein_id": "XP_011507826.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 370,
"cds_start": -4,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3522,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNK2",
"gene_hgnc_id": 6277,
"hgvs_c": "c.-119C>T",
"hgvs_p": null,
"transcript": "XM_047419881.1",
"protein_id": "XP_047275837.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 370,
"cds_start": -4,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3284,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KCNK2",
"gene_hgnc_id": 6277,
"dbsnp": "rs148957991",
"frequency_reference_population": 0.000031005984,
"hom_count_reference_population": 0,
"allele_count_reference_population": 50,
"gnomad_exomes_af": 0.0000225978,
"gnomad_genomes_af": 0.000111639,
"gnomad_exomes_ac": 33,
"gnomad_genomes_ac": 17,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5257707238197327,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.194,
"revel_prediction": "Benign",
"alphamissense_score": 0.5059,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.21,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.568,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.03,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001017425.3",
"gene_symbol": "KCNK2",
"hgnc_id": 6277,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.50C>T",
"hgvs_p": "p.Ala17Val"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}